Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.A18fs
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ETFDH

NM_004453.4:p.A18fs

Associated Papers

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.

Watson-Fargie T et al.

Neuromuscular Disorders : Nmd, 2025

Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.

Robichaud PP et al.

Bmc Medical Genomics, 2022

35488281 (PubMed )
Supplement: 12920_2022_1249_MOESM1_ESM.xlsx › Supplemental_Table_3

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

van Rijt WJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.

Grünert SC

Orphanet Journal of Rare Diseases, 2014

25200064 (PubMed )
Supplement: s13023-014-0117-5-S1.doc

Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult.

Subbu K et al.

Aace Clinical Case Reports, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."